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(1) Purpose: The incidence of anterior cruciate ligament (ACL) ruptures in children and adolescents has considerably increased during the last decades due to higher levels of competitive athletic activity, and early sport specialization and professionalization. Contemporary ACL reconstruction techniques have recently been subject to renewed interest in this population. The objective of this study is to report the short- and mid-term results of our physis-sparing ACL reconstruction technique using an "over the top" technique associated with a modified Lemaire procedure. (2) Methods: A retrospective series of 12 junior soccer players who presented to our clinic with a torn ACL between January 2019 and September 2021 was reviewed. The inclusion criteria were patients under 15 years with open tibial and femoral physes, with a stable contralateral knee, a minimum follow-up of 6 months, and a time frame from injury to surgery of <3 months. Patients with previous knee surgery, structural concomitant injuries, muscular, neurological, or vascular abnormalities, or hypersensitivity to metal alloys were excluded. The functional evaluation was performed using the International Knee Documentation Committee (IKDC) rating, Lysholm score, and Tegner activity level. Moreover, clinical and radiological assessments were also performed, including KT-1000 and knee X-rays. (3) Results: We identified 1 female and 11 male patients with ACL tears, with a mean age of 13.17 ± 0.9 months. Concomitant injuries include isolated vertical and bucket-handle tears of the medial meniscus, lateral meniscus tears, bilateral tear of both menisci. The mean follow-up time was 26 ± 12.6 months. The average IKDC, Lysholm and Tegner scores were 93.29 ± 11.04, 95.08 ± 13.2 and 9 ± 0.0 points, respectively. The average KT-1000 score of the participants was 0.96 ± 1.6 points. None of the included patients reported post-surgical complications or required additional surgeries. (4) Conclusions: Our novel ACL reconstruction with LET technique is a safe procedure that resulted in good clinical outcomes, lower failure rate and return to sports in skeletally immature patients. [ABSTRACT FROM AUTHOR]

The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in p atient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overl ap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in thi s decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turnaround time as the basis for rapid intervention, and economic considerations. Therefore, a frequent question in that context is ‘what to test when’. In this review, we aim to review genetic testing strategies and their strengths and limitations and to raise awareness for the future implementation of interdisciplinary genome medicine in diagnoses, treatment, and counselling of growth disturbances.

Background: Children with orofacial deformity may require repeated imaging of the facial skeleton. Objective: To test the feasibility and accuracy of "black bone" magnetic resonance imaging (MRI) for assessing facial deformity in children. Materials and methods: Three-dimensional (3-D) black bone gradient echo sequences (flip angle 5°, submillimetre spatial resolution) from 10 children (median age: 13 years, range: 2–16 years), who underwent MRI of the temporomandibular joints, were evaluated with multiplanar reconstruction and 3-D rendering tools. Intra- and inter-reader agreement was investigated for measuring the height of the mandibular ramus and condyle, basal length of the mandible, gonion angle and mandibular inclination angle by intraclass correlation coefficient (ICC) and Bland–Altman analysis. Absolute percentage error was calculated with the average of all measurements serving as reference. Results: Sixty linear and 40 angle measurements were obtained on reformatted multiplanar black bone images with excellent inter-reader agreement (ICC > 0.99, agreement bias < 1.4 mm/ < 1.5°) and small error (median absolute error < 3%). The black bone images required inversion of the signal intensity and removal of air before they could be processed with standard volume rendering tools. The diagnostic utility of 3-D views for assessing the facial skeleton was sufficient except for assessing dental relationship. Conclusion: Morphometric measurements of the mandible can be obtained from black bone MRI with comparable inter-rater agreement to that reported for cone beam computed tomography (CT). With improvements of 3-D rendering techniques and software, black bone MRI may become a radiation-free alternative to CT in children with facial deformities. [ABSTRACT FROM AUTHOR]

Background: Imprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially methylated regions (DMRs). To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth and metabolic disturbances, cognitive dysfunction, abdominal wall defects and asymmetry. In general, a single specific DMR is affected in an individual with a given imprinting disorder, but there are a growing number of reports on individuals with so-called multilocus imprinting disturbances (MLID), where aberrant imprinting marks (most commonly loss of methylation) occur at multiple DMRs. However, as the literature is fragmented, we reviewed the molecular and clinical data of 55 previously reported or newly identified MLID families with putative pathogenic variants in maternal effect genes (NLRP2, NLRP5, NLRP7, KHDC3L, OOEP, PADI6) and in other candidate genes (ZFP57, ARID4A, ZAR1, UHRF1, ZNF445). Results: In 55 families, a total of 68 different candidate pathogenic variants were identified (7 in NLRP2, 16 in NLRP5, 7 in NLRP7, 17 in PADI6, 15 in ZFP57, and a single variant in each of the genes ARID4A, ZAR1, OOEP, UHRF1, KHDC3L and ZNF445). Clinical diagnoses of affected offspring included Beckwith–Wiedemann syndrome spectrum, Silver–Russell syndrome spectrum, transient neonatal diabetes mellitus, or they were suspected for an imprinting disorder (undiagnosed). Some families had recurrent pregnancy loss. Conclusions: Genomic maternal effect and foetal variants causing MLID allow insights into the mechanisms behind the imprinting cycle of life, and the spatial and temporal function of the different factors involved in oocyte maturation and early development. Further basic research together with identification of new MLID families will enable a better understanding of the link between the different reproductive issues such as recurrent miscarriages and preeclampsia in maternal effect variant carriers/families and aneuploidy and the MLID observed in the offsprings. The current knowledge can already be employed in reproductive and genetic counselling in specific situations. [ABSTRACT FROM AUTHOR]

Snow avalanches are among the most important disturbances in mountain ecosystems. The effects of avalanches on the endemic Pinus heldreichii and Pinus peuce forests in the Pirin Mountains in Bulgaria are poorly understood. These forests are among the few remaining old-growth forests with preserved natural dynamics in Europe. However, the ongoing development of tourist infrastructure at the borders of some of the best-preserved Pinus heldreichii and Pinus peuce forests close to Bansko ski resort leads to increased tourist pressure. Many backcountry skiers and snowboarders venture beyond the resort boundaries, practicing their activities in these forests and avalanche tracks and couloirs within them. The objective of our study was to collect tree-ring cores from Pinus peuce and Pinus heldreichii trees affected by avalanches and verify the specific types of damages and tree responses characteristic for the species and region. Then using the collected data, we aimed at reconstructing the years in which specific areas were affected by avalanches and in this way obtain data on the magnitude of larger events. Our study shows that large magnitude avalanches (LMA) in the vicinity of Bansko ski resort in the Pirin Mountains in Bulgaria occurred dozens of times in the 20th century. On average the period between LMAs ranged between 9 and 20 years with the shortest period between two such events in one couloir being 2 years. Avalanches affected forests high on the couloir banks and left traces in the tree rings related to the mechanical impact that snow avalanches had on the surviving trees. In the studied tree-ring cores of Pinus peuce and Pinus heldreichii the most informative types of responses were sharp growth suppressions, including missing rings, followed by reaction wood and in less cases visible scars and callus tissue. Our data for frequent large avalanches shows that is necessary to address the avalanche risk with high priority especially for the Palashica couloir, which directly threatens the lower parts of the ski runs as well as other facilities in Bansko ski resort. [ABSTRACT FROM AUTHOR]

Dendrogeomorphology allows for annual dating of various hazardous geomorphic processes in afforested areas. However, there is a lack of detailed knowledge about spatial extent of dated growth disturbances in the whole stems, which is a crucial factor for the selection of an appropriate sampling strategy. In this study, growth disturbances were analysed in the stems of five juvenile Norway spruces (Picea abies (L.) Karst.) and five juvenile Common larches (Larix decidua Mill.) growing on a slope affected by mass-movements. The analysed growth disturbances were: i) reaction wood and ii) tree-ring eccentricity. The relationships between stem curvature and properties of the growth disturbances were studied to offer potential recommendations for sampling. It was found that reaction wood was consistently present at all stem heights in the given event tree ring. Angle extent of the reaction wood tended to decrease with successive tree rings, although an increase in angle extent was observed at higher stem heights (in the case of P. abies). Main direction of the reaction wood tended to be deviated mostly in a near-tilt direction. The properties of the reaction wood had weak associations with both tree-ring eccentricity and stem curvature. Overall, both tree species exhibited similar values of tree-ring eccentricity. Greater eccentricity values appeared mostly in the tilt sampling direction and one of two lateral sampling directions. There was not apparent pattern in the tree-ring eccentricity values observed at different stem heights. Overall, eccentricity had weak influence on stem curvature. To sum it all, both juvenile P. abies and L. decidua trees are good recorders of the two growth disturbances tested. However, differences in the sensitivity of trees to recording events in their annual ring series should be taken into account to achieve the greatest dating potential. [ABSTRACT FROM AUTHOR]

Background: We examined influences of conditioned media from chondrocytes (Ch) on juvenile idiopathic arthritis synovial fibroblasts (JFLS) and potential for JFLS to undergo endochondral bone formation (EBF). Methods: Primary cells from three control fibroblast-like synoviocytes (CFLS) and three JFLS were cultured in Ch-conditioned media and compared with untreated fibroblast-like synoviocytes (FLS). RNA was analyzed by ClariomS microarray. FLS cells cultured in conditioned media were exposed to either TGFBR1 inhibitor LY3200882 or exogenous BMP4 and compared with FLS cultured in conditioned media from Ch (JFLS-Ch). Media supernatants were analyzed by ELISA. Results: In culture, JFLS downregulate BMP2 and its receptor BMPR1a while upregulating BMP antagonists (NOG and CHRD) and express genes (MMP9, PCNA, MMP12) and proteins (COL2, COLX, COMP) associated with chondrocytes. Important TGFβ superfamily member gene expression (TGFBI, MMP9, COL1A1, SOX6, and MMP2) is downregulated when JFLS are cultured in Ch-conditioned media. COL2, COLX and COMP protein expression decreases in JFLS-Ch. BMP antagonist protein (NOG, CHRD, GREM, and FST) secretion is significantly increased in JFLS-Ch. Protein phosphorylation increases in JFLS-Ch exposed to exogenous BMP4, and chondrocyte-like phenotype is restored in BMP4 presence, evidenced by increased secretion of COL2 and COLX. Inhibition of TGFBR1 in JFLS-Ch results in overexpression of COL2. Conclusions: JFLS are chondrocyte-like, and Ch-conditioned media can abrogate this phenotype. The addition of exogenous BMP4 causes JFLS-Ch to restore this chondrocyte-like phenotype, suggesting that JFLS create a microenvironment favorable for endochondral bone formation, thereby contributing to joint growth disturbances in juvenile idiopathic arthritis. [ABSTRACT FROM AUTHOR]

This study evaluates patterns of human growth in the Neolithic to make inferences about environmental correlates of developmental disturbances. 33 children/adolescents from the Neolithic of Liguria (Italy), 29 of which date between 4,800-4,400 cal BCE. Neolithic patterns of growth are compared with a modern sample (the Denver Growth Study; DGS). Dental development was used to determine age at death. Proxies for postcranial maturation are femoral length and proportion of mean adult femoral length attained. Ligurian children show growth faltering compared to DGS, especially between 4 and 9 years of age. Between 1 and 2 years, and in later childhood and adolescence, values are more similar or higher than DGS, when using the proportion of adult femoral length attained. The pattern of growth in Ligurian Neolithic children may reflect a deprived and highly-infectious environment: three individuals show skeletal lesions consistent with tuberculosis. The relatively faster growth in infancy may result from the buffering provided by maternal milk. Older children and adolescents may exhibit catch-up growth. This study contributes to our understanding of Neolithic selective pressures and possible biocultural adaptive strategies. The cross-sectional nature of the data and the small sample size make it unclear whether the observed pattern is representative of the growth patterns in the living population. The possibility that adults are stunted undermines the interpretation of optimal growth in the first years. Refine age estimates, increase sample size through the study of other bone elements. [ABSTRACT FROM AUTHOR]

Lava flow, pyroclastic flows and ash deposition can impair the vitality and growth of tree growing on or next to volcanoes, and sometimes even remove entire forest stands. In the case that trees are only injured, but not killed, past volcanic process activity can be analyzed through the growth disturbances left in the tree-ring records. We investigated disturbances in growth ring series of Pinus hartwegii trees associated with a pyroclastic flow that covered portions of the northern flank of Popocatépetl volcano on 22 January 2001. In addition, we also documented the post-eruptive colonization of trees on the resulting deposit. The pyroclastic flow burned and killed at least 190 trees and locally shifted the timberline downslope by ~40 m in elevation. A large number of trees were injured to show noticeable fire scars. We analyzed and characterize the damage in flow-surviving trees. Sixteen years after the event, whorl counts on 244 P. hartwegii shoots growing on the surface of the pyroclastic flow deposit showed average ages of 8 yr (this is the age at ~1.4 m height). The ecesis interval or Germination Lag Time (GLT) of trees on the pyroclastic flow deposit was 7 yrs (±2 yr), and the Colonization Time Gap (CTG) was 15 yrs on average (CTG is the sum of GLT and the interval between seedling germination and growth at ~1.4 m height), with local differences related to altitude and/or location on the bare surface. Results obtained at this site can be used to date and to identify the extent of pyroclastic flow deposits on active volcanoes, thereby providing valuable information on the volcanic history (in terms of frequency and runout distances) and therefore also for hazard prevention plans. In addition, it can be useful to calibrate the minimum ages of volcanic landforms. Unlabelled Image • Tree-ring analysis allows characterization of damage caused by a pyroclastic flow to timberline pines. • The pyroclastic flow killed > 190 trees and locally shifted timberline ~40 m downslope. • Spati-temporal patterns of post-eruptive colonization are controlled by altitude, seed sources and geomorphology. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to follow up, clinically and radiographically, skeletally immature patients who underwent ACL reconstruction with an all-epiphyseal "over-the-top" technique.Methods: Twenty athletes aged between 8 and 13 years were enrolled and retrospectively evaluated. The subjects underwent surgical ACL reconstruction between 2009 and 2013. The surgical technique consisted of a single-bundle all-epiphyseal ACL reconstruction with an extra-articular lateral tenodesis. The mean follow-up was 54 months [34-123] after surgery. Clinically, the patients were evaluated pre- and post-operatively with Lysholm and KOOS scores; sport activity level was evaluated using the pre-injury, pre-operative and post-operative Tegner scores. Objective IKDC was calculated post-operatively. The joint laxity was evaluated by KT1000 and Rolimeter arthrometers. Panoramic AP standing radiographs of the lower limbs and lateral knee radiographs were also taken at the follow-up to evaluate limb length discrepancies (LLD) and axial malalignment. Normally distributed parameters were presented as mean ± standard deviation, while the non-normally distributed parameters were presented as median [25° percentile, 75° percentile].Results: Clinical scores showed significant (P < 0.01) improvement: Lysholm and KOOS scores improved from 40 [22; 65] and 59 [42, 73], respectively, to 100 [95; 100] and 99 [97;100] after surgery. Tegner score improved from 2 [2; 2] pre-operatively to 7 [3; 9] at follow-up (P < 0.01). At follow-up, IKDC score was A for 19 patients and one who scored B. All patients returned to sport activity and had good stability at follow-up: the KT1000 showed a median side-to-side difference of 0.0 mm [- 0.4; 1.0] for the standard force evaluation and 0.0 mm [- 1.0; 0.8] for manual-maximum test. The Rolimeter showed median side-to-site difference of 0.0 mm [- 1.0; 0.8]. Three minor leg length discrepancies and axial deviations were observed at the radiograph: one patient had 0.6 cm lengthening and 4° of varus, one had 1 cm lengthening, and one had 3° of varus (in comparison with the non-operated limb). No re-injury was observed.Conclusion: This study demonstrates that the modified all-epiphyseal single-bundle "over-the-top" technique is a viable and safe option for ACL reconstruction in pediatric subjects. These results support once more that not only ACL reconstruction is a safe procedure in skeletally immature patients, but also it is highly recommended for those who want to pursue an active and sportive life.Level Of Evidence: Case series, IV. [ABSTRACT FROM AUTHOR]

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Heteropathes opreski de Matos, Braga-Henriques, Santos & Ribeiro, 2014 (Antipatharia: Cladopathidae) was recently described based on a single specimen from northeast of the Oceanographer Fracture Zone, Mid-Atlantic. Several specimens of the same species were recently collected in the vicinity of Semenov and Irinovskoe ore clusters (northern subequatorial Mid-Atlantic Ridge). Based on this new material, a re-description of the species, an emended diagnosis and a comparison with hitherto known species of the genus are provided. Such a diagnosis is needed because two key characters outlined in the original description as distinctive for this species (short lateral pinnules and larger spines at lateral pinnules) appear to be misinterpreted features caused by the poor condition of the holotype, which was damaged and undergoing regeneration. H. opreski differs from all other known species of the genus by more densely set lateral pinnules and occasionally anastomosing subpinnules on the anterior primary pinnules. The species is known exclusively from the Mid-Atlantic Ridge (34°46.7′ N to 13°19.43′ N) at depths 1,955-2,738 m and is considered here as putatively endemic of the area. [ABSTRACT FROM AUTHOR]

Purpose: To survey and describe the treatment of paediatric anterior cruciate ligament (ACL) injuries performed by orthopaedic surgeons affiliated with the European Society for Sports Traumatology, Knee Surgery and Arthroscopy (ESSKA).Methods: A closed e-survey was submitted to all registered members and affiliates of ESSKA in July 2013. All recipients were invited to participate in the survey by answering 34 questions online. The list of potential respondents was extracted from the ESSKA office database.Results: Invitation was sent to 2236 ESSKA members and affiliates, and received 491 (22%) unique responses. Among the respondents, 445 (91%) were orthopaedic surgeons, with 354 (72%) stating that they were involved in treatment of paediatric ACL injuries. The main findings were that there are substantial differences with regard to preferred treatment algorithms, surgical techniques and long-term follow-up procedures. The summed estimate of skeletally immature children with ACL injury seen by the responders in 2012 was minimum 1923 individuals, and a minimum of 102 clinically relevant post-operative growth disturbances were registered.Conclusion: The present survey documents that the incidences of paediatric ACL injuries and idiopathic growth disturbances may be higher than previously estimated. Treatment algorithms and surgical techniques are highly diverse, and consensus could not be identified. It is worrying that only half the surgeons reported to follow-up children until skeletal maturity after surgical treatment. The results of this survey highlight the importance of international multicentre studies on paediatric ACL treatment and the development of an outcome registry to enable prospective data collections.Level Of Evidence: IV. [ABSTRACT FROM AUTHOR]

The geological structure of a slope is one of the key factors that drives the development of landslide types. Various landslide types, although occurring in the same locality, can result in different spatio-temporal dynamics of their movements. Moreover, the presence of shallow creep movements on such slopes can modify the effect of slide movements and possibly cause the false impression of landslide activity. The nonstandard combination of detailed tree-ring-based (dendrogeomorphic) approaches involving the careful assessment of growth disturbance properties (the duration, intensity, mutual ratio of different disturbances), the statistical testing of the spatial pattern of disturbed trees, the analysis of possible extreme precipitation triggers, and geophysical sounding was used in this study in an attempt to distinguish creep and slide movements and assess the general slope movement activity on slopes with contrasting geological structures. Data from 1032 tree-ring series of 516 disturbed individuals of common spruce (Picea abies (L.) Karst.) enabled the reconstruction of 13 slope movements on all three studied sites (3, 7, and 3) for the last approximately 70 years. Although some indices correspond with the general assumption of a specific landslide type to the structure of induced growth disturbances (e.g., an increased ratio of reaction wood on rotational landslides), the advanced dendrogeomorphic approach used suggests that not all dated events are of slide origin and that creep movements significantly modify the effect of original slide movement on tree growth. Some dated events are probably the result of only creep movements themselves. Thus, the present study critically assesses results of the dendrogeomorphic dating of various landslides, presents contrasting behavior of slope movements on slopes with contrasting geological structures, and recommends the use of more advanced tree-ring-based approaches for more effective dendrogeomorphic research of landslides. [ABSTRACT FROM AUTHOR]

Dendrogeomorphology represents an appropriate method for dating past avalanche events using tree-ring widths and their anatomical structure. Here, we present dendrochronological dating of avalanche events in the Giant Mountains, Czech Republic. The goals of this study were to reconstruct past avalanche activity in the Giant Mountains, and to evaluate the dating ability of dendrochronological methods by means of comparing documentary-evidenced and dendrochronologically dated avalanche events. In total, 320 cores and 12 cross-sections were extracted from 99 trees bordering four avalanche paths. We identified 1378 markers indicating possible avalanche events. Using both the number and reliability of markers, 20 very probable and 29 probable avalanche events were dated, spanning the period 1904–2012. These results significantly expand the list of directly observed avalanches compiled since the 1960s in the studied region and provided a unique possibility to validate dating results. Dendrochronological dating was relatively successful at identifying large avalanches, with 55% of such events correctly dated. However, small snow mass transports limited to the central parts of the paths were often not detected. Dendrochronological dating was also efficient at estimating spatial differences in avalanche frequency. It is concluded that dendrochronology proved to be an appropriate method to reconstruct the avalanche history of small avalanche paths of medium-altitude mountains with frequent avalanche events. [ABSTRACT FROM AUTHOR]

Debris-flows are infrequent geomorphic phenomena that shape steep valleys and can repre-sent a severe hazard for human settlements and infrastructure. In this study, a debris-flow event chro-nology has been derived at the regional scale within the Gesäuse National Park (Styria, Austria) using dendrogeomorphic techniques. Sediment sources and deposition areas were mapped by combined field investigation and aerial photography using an Unmanned Aerial Vehicle (UAV). Through the analysis of 384 trees, a total of 47 debris-flows occurring in 19 years between AD 1903 and 2008 were identified in five adjacent gullies. Our results highlight the local variability of debris-flow activi-ty as a result of local thunderstorms and the variable availability of sediment sources. [ABSTRACT FROM AUTHOR]

The Crimean Mountains (Ukraine) are renowned for the highest occurrence of debris flows along the northern coast of the Black Sea, but information on their origin, frequency and triggers is widely lacking. This study reconstructs a regional time series of debris flows in eight catchments located on the slopes above Yalta. Dendrogeomorphic analyses were performed on 1122 increment cores selected from 566 black pines ( Pinus nigra ssp. pallasiana) with clear signs of external damage induced by past debris-flow activity. The trees sampled were divided into old and young trees. The sample contains 361 young trees with post-1930 innermost rings and 205 old trees with pre-1930 germination dates. The two groups of trees were analyzed separately to identify possible age effects in the reconstructed debris-flow series and to assess the ability of P. nigra to record geomorphic disturbances over time. We date a total of 215 debris flows back to ad 1701 and observe a mean decadal frequency of 6.9 events, with a peak in activity during the 1940s (20 events). The young trees record an increase in debris-flow activity over the last 70 years, whereas the frequency of events remained fairly constant in the old trees for the same period. By contrast, the formation of reaction wood became increasingly scarce with increasing tree age whereas the occurrence of abrupt growth suppression increased. Copyright © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Introduction Juvenile idiopathic arthritis (JIA) is characterized by a progressive destruction of the joints. The temporomandibular joints (TMJ) are especially likely to be affected. The often undetected arthritis in the TMJ in particular can cause significant destruction and craniofacial developmental abnormalities. The aim of this study was to analyze the destructive impact of JIA on TMJ and mandibular development. Material and methods We analyzed a total of 92 joints and mandibular rami using digital cone-beam tomography (CBT) and compared 23 consecutively treated JIA patients with 23 healthy controls, matched for age and gender. We evaluated ramus length, vertical depth of the articular fossa, anterior–posterior dimensions of the mandibular head and condylar process. The statistical analysis was performed using non-parametric Wilcoxon and Kruskal–Wallis Rank Sum tests. Results The JIA patients exhibited significantly more pronounced asymmetries. However, we were unable to detect significant differences in the metric measuring distances. The different JIA subtypes exerted no statistically significant influence. Conclusions The possible destruction arising as a result of JIA concerns the TMJ and the length of the mandibular ramus. These craniofacial anomalies demonstrate the central importance of sufficiently early detection and timely treatment in the prevention of such growth disturbances. [ABSTRACT FROM AUTHOR]

Copyright of Der Unfallchirurg is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Genomic imprinting is an epigenetically regulated mechanism leading to parental- origin allele-specific expression. Beckwith-Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). BWS and IMAGe share an imprinted mode of inheritance; familial analysis demonstrated the presence of the phenotype exclusively when the mutant CDKN1C allele is inherited from the mother. Interestingly, both IMAGe and BWS are characterized by growth disturbances, although with opposite clinical phenotypes; IMAGe patients display growth restriction whereas BWS patients display overgrowth. CDKN1C codifies for CDKN1C/KIP2, a nuclear protein and potent tight-binding inhibitor of several cyclin/ Cdk complexes, playing a role in maintenance of the nonproliferative state of cells. The mirror phenotype of BWS and IMAGe can be, at least in part, explained by the effect of mutations on protein functions. All the IMAGe-associated mutations are clustered in the proliferating cell nuclear antigen-binding domain of CDKN1C and cause a dramatic increase in the stability of the protein, which probably results in a functional gain of growth inhibition properties. In contrast, BWS mutations are not clustered within a single domain, are loss-of-function, and promote cell proliferation. CDKN1C is an example of allelic heterogeneity associated with opposite syndromes. [ABSTRACT FROM AUTHOR]

The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overlap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in this decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turnaround time as the basis for rapid intervention, and economic considerations. Therefore, a frequent question in that context is 'what to test when'. In this review, we aim to review genetic testing strategies and their strengths and limitations and to raise awareness for the future implementation of interdisciplinary genome medicine in diagnoses, treatment, and counselling of growth disturbances.

Melorheostosis (of Leriand Joanny) is a rare, non-genetic sclerotic dysplatic bone disorder presenting at any age, usually from late childhood to adulthood. Its aetiology is unknown. It affects mainly the long bones of the upper and lower limbs, but also the short bones of the hand and foot and, rarely, the axial skeleton. Onset is usually insidious, with pain, deformity of the extremity, limb stiffness and limitation of joint motion, as well as thickening and fibrosis of the overlying skin and muscle atrophy being the common clinical features found on presentation. In adults the characteristic radiographic appearance consists of irregular hyperostotic changes of the cortex, generally on one side of the bone, resembling melted wax dripping down one side of a candle, from which melorheostosis derives its name. This, however, is not a feature of the radiographic appearance in children, where the external cortical margin retains its regular outline. Children more often present with a discrepancy in limb size rather than with pain (as is seen in adults). We present our case of melorheostosis in a 12-year-old child to highlight the main clinical and radiological differences found between children and adults.

Abstract: Multiple Hereditary Exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple osteochondromas. Patients often present with growth disturbances and angular deformities of the long bones, and a limited range of motion of the joints. In adults, the risk of malignant transformation of osteochondroma into chondrosarcoma exists, with an estimated incidence of 3–6%. In addition to the physical deformities, pain is a significant problem for patients with MHE and the disease has a profound negative influence on activities of daily living, occupation and school performance. In the treatment of patients with MHE, knowledge about the various disorders encountered and the natural course of the disease, as well as appropriate timing of interventions are essential. Surgical treatment may not only include the excision of osteochondromas but also limb reconstruction procedures to correct deformities. During childhood, however, this may be limited to procedures such as hemiepiphysiodesis for valgus deformity of the knee and ankle to prevent more extensive surgery at older age. Furthermore, early recognition of malignant degeneration of osteochondroma and the immediate treatment of chondrosarcoma are of the utmost importance for patient survival. Therefore, periodic screening in children as well as adults is highly recommended. [Copyright &y& Elsevier]

Chromosomal duplications and deletions in 7p12.2 have been described in patients with growth disturbance phenotypes, that is, Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS). The region harbors the imprinted GRB10/Grb10 gene which has been postulated to belong to a major fetal growth pathway. Based on its genomic localization, its physiological function and its imprinting status, GRB10/Grb10 was considered as a candidate for growth disturbance disorders. However, based on case reports with imbalances of the GRB10 locus it has been suggested that the altered GRB10 copy number should be responsible for the aberrant growth phenotype rather than an altered imprinting status of the gene. We now report on a patient with an increased height and weight in his first years of life carrying a de-novo duplication (5.1 Mb) of paternal 7p12.2 material. The increased growth in this patient again contradicts the hypothesis that a gain of GRB10 copies leads to growth restriction. Indeed, it is necessary to compare the regions of imbalances in 7p12 and the affected genes in the different patients as other genes than GRB10 in 7p12 might cause these aberrant growth phenotypes. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The purpose of this study was to reconstruct spatiotemporal patterns of past landslide reactivation in a forested area of the Barcelonnette Basin (Bois Noir landslide, Southern French Alps). Analysis of past events was based on tree ring series from 79 heavily affected Mountain pine ( Pinus uncinata Mill. ex Mirb) trees growing near or next to the landslide body. Dendrogeomorphic analysis focused on the presence of compression wood and growth reductions, with the first reaction being used for a dating of past reactivations with seasonal precision. A total of 151 growth disturbances were identified in the samples representing eight different stages of reactivation of the landslide body between 1874 and 2008. The spatiotemporal accuracy of the reconstruction is confirmed by historical records from neighboring sites and by aerial photographs. The onset of compression wood formation allows identifying five stages of landslide reactivation during the dormant season or the very beginning of the growing season of trees, i.e., between early October and late May, and three stages toward the end of the growth period. Monthly rainfall data from the HISTALP database demonstrate that the rainfall during four out of the eight reactivations are characterized by summer rainfall totals (July-August) exceeding 200 mm, pointing to the important role of summer rainstorms in the triggering of events at the Bois Noir landslide body. [ABSTRACT FROM AUTHOR]

Abstract: Snow avalanches are a major threat in many parts of the Alps, where they periodically damage infrastructure, disrupt transportation corridors or even cause loss of life. Nonetheless, the spatial behavior of past avalanche activity and the analysis of areas affected during particular events remain often imprecise. It was therefore the purpose of this study to reconstruct spatio-temporal patterns of past avalanche activity on a forested avalanche talus in the French Alps (Pierres Jean Jeanne talus, Massif de l''Oisans, France). A total of 232 European larches (Larix decidua Mill.) with clear signs of snow wasting events was analyzed and growth disturbances (GD) related to avalanche activity was assessed, such as tangential rows of traumatic resin ducts, the onset of compression wood or abrupt growth suppression and release. In total, 901 GD were identified in the tree-ring samples, indicating that 20 high-magnitude avalanches occurred between AD 1919 and 1994. The mean return period of snow avalanches was ~4years with a ~26% probability that an avalanche occurs in any particular year. Interpolated maps allowed for explicit spatial estimates of return periods throughout the talus, showing a rapid increase of return frequency from 2.5 to 50years with increasing distance from the talus apex. The distribution of avalanche years seems to be quite homogeneous in time with a gap between 1951 and 1959 and since 1994. Snowfall from a nearby meteorological station (Saint-Christophe en Oisans; 10km from the study site) indicated that the five most recent high-magnitude events on record occurred due to above-average snowfall anomalies in December and January associated with abnormally low air temperatures. Findings suggest that a strong snow metamorphism under high temperature gradients in January could explain the occurrence of high-magnitude snow avalanches. [Copyright &y& Elsevier]

Abstract: Past debris-flow activity in the Birchbach torrent (Swiss Alps) was assessed using tree-ring data. Based on the analysis of 210 Larix decidua and Picea abies, 50 events were reconstructed for the period AD 1752–2006. On average, 3.2 events per decade occurred in the torrent during the last century with distinct differences between the decades and a considerable decrease in the number of events during the last decade. Comparison with debris-flow reconstructions in neighboring catchments provided more insight in the similarities and differences in debris-flow occurrence. The recurrent debris-flow activity and current geomorphic settings suggest that the occurrence of debris flows in the torrent is rather transport-limited than supply-limited. Therefore, future investigations on debris-flow occurrence in transport-limited basins should focus on triggering rainfall events. [ABSTRACT FROM AUTHOR]

Abstract: For the first time, dendrogeomorphology has been used to investigate spatial and temporal variations of rockfall activity in a protection forest. We report results of 564 cores from 135 severely injured Larix decidua Mill. trees on the west-facing Täschgufer slope, Swiss Alps. While trees sampled reached an age of 297 years on average, the oldest one attained breast height in AD 1318. For reasons of sample depth, the analysis was limited to the period 1600–2002. In total, we reconstructed 741 growth disturbances (GD) during the last four centuries. Impacts were most commonly found in trees located in the southern part of the slope, where GD recurred more than once per decade. In contrast, trees in the northern part were less frequently disturbed by rockfall and define recurrence intervals of more than 150 years. Throughout the last four centuries, rockfall has caused GD to the trees sampled on the Täschgufer slope, most frequently in the form of low magnitude–high frequency events. In addition, we identified one high magnitude–low frequency event in 1720, which displaced the forest fringe of the northern sector a considerable distance downslope and eliminated an entire forest stand. To analyze past rockfall activity, we introduce a “rate” defined as the number of impacts per meter width of all tree surfaces sampled per decade. Results clearly demonstrate that this rockfall “rate” continually decreased in both sectors after the large 1720 rockfall event. Significantly low rockfall “rates” can be observed during the 1850s, 1960s and 1970s in the northern and during the 1820s in the southern sector. In contrast, high rockfall “rates” were identified during the 1870s and 1990s in the northern, and during the 1770s in the southern sector. Reconstructed data further show that the forest recolonizing the southern sector after the 1720 event gradually improved its protective function, reducing “rates” by a factor of 13 between the 1740s and the 1990s. In the recent past, “rates” oscillated around 0.7 GD 1 meter width−1 (10 years)−1. In the well-established forest of the northern sector, the efficacy of the protective forest was temporarily reduced by the rockfalls in 1720, resulting in increased rockfall “rates”. Since then, the protective function of the forest stand has increased again, resulting in a rate of 0.4 GD 1 m width−1 (10 years)−1 during the late 20th century. [Copyright &y& Elsevier]

Copyright of Der Orthopäde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal. [ABSTRACT FROM AUTHOR]

Copyright of Klinische Wochenschrift is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In spite of the huge progress in the treatment of diabetes mellitus, we are still in the situation that both pregestational (PGDM) and gestational diabetes (GDM) impose an additional risk to the embryo, fetus, and course of pregnancy. PGDM may increase the rate of congenital malformations, especially cardiac, nervous system, musculoskeletal system, and limbs. PGDM may interfere with fetal growth, often causing macrosomia, but in the presence of severe maternal complications, especially nephropathy, it may inhibit fetal growth. PGDM may also induce a variety of perinatal complications such as stillbirth and perinatal death, cardiomyopathy, respiratory morbidity, and perinatal asphyxia. GDM that generally develops in the second half of pregnancy induces similar but generally less severe complications. Their severity is higher with earlier onset of GDM and inversely correlated with the degree of glycemic control. Early initiation of GDM might even cause some increase in the rate of congenital malformations. Both PGDM and GDM may cause various motor and behavioral neurodevelopmental problems, including an increased incidence of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Most complications are reduced in incidence and severity with the improvement in diabetic control. Mechanisms of diabetic-induced damage in pregnancy are related to maternal and fetal hyperglycemia, enhanced oxidative stress, epigenetic changes, and other, less defined, pathogenic mechanisms. [ABSTRACT FROM AUTHOR]

Purpose: The current study aims to evaluate socioeconomic inequality in growth disorders and its determinants in Iranian children and adolescents., Methods: In this nationwide cross-sectional survey, 14,880 students aged 6-18 years were selected through multistage cluster sampling method from urban and rural areas of 30 provinces of Iran in 2011. Socioeconomic status (SES) was calculated using principle component analysis. Socioeconomic inequality in growth disorders (including; underweight, excess weight, overweight, general obesity, abdominal obesity, and short stature) was assessed using concentration index (C) and slope index of inequality (SII). The Oaxaca Blinder decomposition method was used to determine determinants of this inequality., Results: Totally, 13,486 students participated in this study (participation rate: 90.6%), comprising 50.8% boys and 75.6% urban inhabitants. Their mean age was 12.47 ± 3.36 years with no significant gender difference. The prevalence of excess weight, overweight, and general and abdominal obesity increased linearly as SES increased, and the prevalence of underweight and short stature decreased linearly as SES increased. The C index for underweight and short stature was negative, which suggests that inequality was in favor of high SES groups, and regarding overweight, excess weight, general and abdominal obesity, the index was positive, indicating that inequality was in favor of in low SES groups., Conclusion: Our findings show a considerable inequality in prevalence of growth disorders in Iranian children and adolescents. These findings provide practical information for health policies and programs., Competing Interests: Competing interestsThe authors declare that they have no competing interests., (© Springer Nature Switzerland AG 2021.)

Background: Multiple endocrine neoplasia (MEN) 2B is characterized by early development of aggressive medullary thyroid carcinoma (MTC), visible physical stigmata, and associated symptoms. In most cases, de novo mutations are revealed. There are premonitory symptoms and stigmata that enable early diagnosis, before an inoperable MTC develops. The German Society for Paediatric Oncology and Haematology (GPOH)-Malignant Endocrine Tumours (MET) registry maintains records of children with MTC in Germany since 1997., Methods: Children with a diagnosis of MTC in MEN 2B recorded in the GPOH-MET study were analyzed retrospectively. Stigmata and symptoms associated with MEN 2B were examined., Results: From inception through 2017, 24 patients aged 0.2-17.3 years were included. Symptoms affecting the oral/dental (88.0%), musculoskeletal (79.2%), and gastrointestinal (70.8%) systems were recognized most frequently. Gastrointestinal and musculoskeletal symptoms preceded symptoms of MTC. Twelve patients had short stature. Regarding the prevalence of single symptoms, neuromas of the lips and the oral cavity were mentioned most frequently. Five patients died from MTC. Patients diagnosed by tumor symptoms showed more advanced disease than those with disease detected by other means. Children diagnosed via associated stigmata and symptoms or positive family history had significantly improved overall survival (OS) compared to children diagnosed via symptoms of MTC (OS 100% vs 53.3%)., Conclusions: In children with MEN 2B, oral/dental, musculoskeletal, and gastrointestinal symptoms are most common. If children are diagnosed via associated symptoms and stigmata, OS is improved. Most of the children were diagnosed with growth disturbances; this finding requires verification and ranging in other patient cohorts., (© 2019 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.)